Variant report

Variant	rs2117225
Chromosome Location	chr8:42627113-42627114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10087172	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10092346	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10105699	0.82[ASN][1000 genomes]
rs10107450	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10108797	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10109040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109429	0.92[ASN][1000 genomes]
rs10109864	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10110332	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1072003	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808962	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11986893	0.83[AMR][1000 genomes]
rs11995030	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960346	0.82[AMR][1000 genomes]
rs2082591	0.85[AMR][1000 genomes]
rs2196128	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2217732	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2304297	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28501554	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28784665	0.85[AMR][1000 genomes]
rs28826992	0.85[AMR][1000 genomes]
rs4509313	0.86[AMR][1000 genomes]
rs4567031	0.86[AMR][1000 genomes]
rs4737068	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737071	0.83[AMR][1000 genomes]
rs56395510	0.85[AMR][1000 genomes]
rs6474418	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6474420	0.86[AMR][1000 genomes]
rs6982753	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6984252	0.86[AMR][1000 genomes]
rs6999449	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7000412	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7001753	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7002223	0.90[ASN][1000 genomes]
rs7003968	0.84[ASN][1000 genomes]
rs7004108	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7015935	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7017612	0.88[ASN][1000 genomes]
rs7812298	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7824155	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7824614	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7825261	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7825907	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7826201	0.84[ASN][1000 genomes]
rs7828366	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7831096	0.85[AMR][1000 genomes]
rs7839964	0.86[ASN][1000 genomes]
rs7841834	0.83[AMR][1000 genomes]
rs7845365	0.86[ASN][1000 genomes]
rs7845663	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs892413	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9298628	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9298629	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42608800-42629200	Weak transcription	Right Atrium	heart
2	chr8:42624000-42632000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:42626400-42627200	Enhancers	GM12878-XiMat	blood
4	chr8:42626600-42627200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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